CELL & MOLECULAR BIOLOGY/BIOCHEMISTRY
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Antimalarial drug-induced hemolytic anemia: glucose-6-P dehydrogenase deficiency due to various -?- mutations.
Type la von Gierke: glycogen accumulation in specific organs; out of -?- 12 types, 3 are common, severe, autosomal recessives.
Tay Sachs: ganglioside GM2 buildup in brain leading to early mental retardation, -?- blindness and death.
Familial hypercholesterolemia type IIa: defective apo-B100 -?- LDL receptors.
Familial hypertriglyceridemia type IV: due to -?- elevated VLDL's leading to premature atherosclerosis and myocardial infarction.
Combined hyperlipidemia: high plasma cholersterol and/or triglycerides leading to -?- premature atherosclerosis and myocardial infarction.
Cystic fibrosis: one of the most common -?- lethal autosomal recessive disorders; malfunctioning cyclic-AMP activated chloride channel leads to excessive NaCl in -?- sweat and excessive excretion of mucous from exocrine glands; chronic obstructive lung disease and -?- bacterial infections infections lead to early death.
Gout: X-linked -?- recessive defects of purine overproduction and excretion causing gouty arthritis due to painful deposits of insoluble sodium urate in joints & soft tissues.
Lesch-Nyhan syndrome: X-linked recessive defect causing rise in PRPP, purine overproduction, hyperuricemia, mental retardation, -?- self-mutilation.
Xeroderma pigmentosum: autosomal recessive defect preventing repair of -?- pyrimidine dimmer in DNA caused by UV light leading to skin cancer.
Thalassemias: genetic defects resulting in incorrect synthesis of mRNA from DNA (e.g., aberrant splicing); mRNA encodes abnormal protein (e.g., framshift mutation); or no mRNA due to -?- absence of gene.
Congenital erythropoietic porphyria: -?- cosynthase deficiency; symptoms include accumulation of uroporphyrinogen I and useless derivatives, red urine, -?- sensitive skin, & premature RBC removal. Autosomal recessive.
Phenylketouria: phenylamine accumulatesand is normally converted to -?- tyrosine; untreated babies become severely -?- mentally retarded if not treated in first year by a -?- low phenylalanine diet; autosomal recessive.
Maple syrup urine disease: accumulation of leucine, isoleucine & -?- valine in blood & urine, leading to urine having a maple syrup -?- smell; mental retardation results unless low -?- branched-chain amino acid diet is started with newborns.